Linked Life Data

18204299

Source:http://linkedlifedata.com/resource/pubmed/id/18204299

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2008-1-21
pubmed:abstractText
Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle. Although a combination of molecular methods have been used including DNA sequencing of all 10 exons and exon-intron boundaries of OTC gene, only approximately 80% of patients with OTC deficiency are found to have mutations. We report two known and three novel mutations of the OTC gene in five Japanese patients including two neonatal-onset, one late-onset, and two symptomatic female patients. Known nonsense mutations (c.578G>A and c.421C>T) were detected in a neonatal-onset male and a symptomatic female patient, respectively. Mutation analysis revealed two novel mutations including one splice site mutation (c.386+1G>C) in a symptomatic female patient and one missense mutation (c.515T>A) in a late-onset male patient. In the remaining case, which was a neonatal-onset male patient, no mutation was disclosed by direct sequencing of all 10 exons and their flanking intron sequences. Therefore, OTC mRNA in the liver was analyzed by RT-PCR, and remarkably, a 135-nt insertion was detected between exons 5 and 6. Genomic DNA analysis of intron sequences revealed a single nucleotide change at 265 bp downstream from the 3' end of exon 5, which created the novel splice acceptor site. Thereby, a 135-nt exon was created from the central part of an intron sequence. This is the first report of mutation deep in the intronic sequence in the OTC gene. Molecular analysis using genomic DNA and mRNA will increase the mutation detection ratio in the OTC gene.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1883-0498
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
53
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
229-40
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
pubmed:affiliation
Department of Pediatrics, Kobe University Graduate School of Medicine.
pubmed:publicationType
Journal Article, Case Reports